OBJECTIVE: To raise awareness of the updated TSC diagnosis criteria; to assess the frequency of skin lesions in TSC patients as well as the first dermatological presentation; and to associate the findings with either TSC1 or TSC2 mutations.
METHODS: Observational cross-sectional study. Clinical and genetic data were retrospectively collected from 37 TSC patients from a Brazilian University Hospital. Patients with skin signs were examined and prospectively assessed for 12 months.
RESULTS: The earliest cutaneous lesions were hypomelanotic macules, which together with angiofibromas were the most frequent dermatological lesions. The total pathogenic DNA alteration ratio between TSC2 and TSC1 genes was 8:1. The frequency of a TSC2 pathogenic variant was 10-fold greater in the presence of ungual fibromas.
CONCLUSIONS: Small sample and a limited number of patients with TSC1 pathogenic variants.
CONCLUSIONS: Clinicians should be knowledgeable about TSC updated diagnostic criteria. Patients need to be followed up by a multidisciplinary team and treated accordingly. Early detection of cutaneous lesions is important for TSC diagnosis. A significant association between TSC2 gene pathogenic alterations and ungual fibromas is described.
目的:提高对更新的TSC诊断标准的认识;评估TSC患者皮肤病变的频率以及首次皮肤病学表现;并将这些发现与TSC1或TSC2突变相关联。
方法:观察性横断面研究。回顾性收集了来自巴西大学医院的37名TSC患者的临床和遗传数据。对有皮肤体征的患者进行检查和前瞻性评估,为期12个月。
结果:最早的皮肤病变是色素减少型黄斑,与血管纤维瘤一起是最常见的皮肤病学病变。TSC2和TSC1基因之间的总致病性DNA改变比例为8:1。TSC2致病性变异体的频率在指甲纤维瘤的存在下增加10倍。
结论:TSC1致病变异患者样本少,数量有限。
结论:临床医生应了解TSC更新的诊断标准。患者需要由多学科小组进行随访并进行相应的治疗。皮肤病变的早期检测对于TSC诊断很重要。描述了TSC2基因致病性改变与指甲纤维瘤之间的显着关联。